期刊
HUMAN HEREDITY
卷 52, 期 3, 页码 121-131出版社
KARGER
DOI: 10.1159/000053366
关键词
identity by descent; algorithm; comparison; SimWalk2 computer package
资金
- NATIONAL CENTER FOR RESEARCH RESOURCES [P41RR003655] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE ON AGING [R03AG016987] Funding Source: NIH RePORTER
- NCRR NIH HHS [1P41 RR 03655] Funding Source: Medline
- NIA NIH HHS [AG 16987-02] Funding Source: Medline
Objectives:To describe, implement, and test an efficient algorithm to obtain multipoint identity-by-descent (IBD) probabilities at arbitrary positions among marker loci for general pedigrees. Unlike existing programs, our algorithm can analyze data sets with large numbers of people and markers. The algorithm has been implemented in the SimWalk2 computer package. Methods: Using a rigorous testing regimen containing five pedigrees of various sizes with realistic marker data, we compared several widely used IBD computation programs: Allegro, Aspex, GeneHunter, MapMaker/Sibs, Mendel, Sage, SimWalk2, and Solar. Results:The testing revealed a few discrepancies, particularly on consanguineous pedigrees, but overall excellent results in the deterministic multipoint packages. SimWalk2 was also found to be in good agreement with the deterministic multipoint programs, usually matching to two decimal places the kinship coefficient that ranges from 0 to 1. However, the packages based on single-point IBD estimation, while consistent with each other, often showed poor results, disagreeing with the multipoint kinship results by as much as 0.5. Conclusions: Our testing has clearly shown that multipoint IBD estimation is much better than single-point estimation. In addition, our testing has validated our algorithm for estimating IBD probabilities at arbitrary positions on general pedigrees. Copyright (C) 2001 S. Karger AG, Basel.
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